Canonical Allele Identifier: CA349545408

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179467078C>A (hg19) ; chr2:g.178602351C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602351C>A , CM000664.2:g.178602351C>A	GRCh38
NC_000002.11:g.179467078C>A , CM000664.1:g.179467078C>A	GRCh37
NC_000002.10:g.179175323C>A	NCBI36
NG_011618.3:g.233452G>T , LRG_391:g.233452G>T
NG_051363.1:g.84525C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47347G>T (TTN)	ENSP00000343764.6:p.Ala15783Ser
ENST00000342175.11:c.28432G>T (TTN)	ENSP00000340554.6:p.Ala9478Ser
ENST00000359218.10:c.28231G>T (TTN)	ENSP00000352154.5:p.Ala9411Ser
ENST00000342175.10:c.28432G>T (TTN)	ENSP00000340554.6:p.Ala9478Ser
ENST00000342992.10:c.47347G>T (TTN)	ENSP00000343764.6:p.Ala15783Ser
ENST00000359218.9:c.28231G>T (TTN)	ENSP00000352154.5:p.Ala9411Ser
ENST00000460472.6:c.27856G>T (TTN)	ENSP00000434586.1:p.Ala9286Ser
ENST00000589042.5:c.55051G>T (TTN) MANE Select	ENSP00000467141.1:p.Ala18351Ser
ENST00000591111.5:c.50128G>T (TTN)	ENSP00000465570.1:p.Ala16710Ser
ENST00000615779.4:c.50128G>T (TTN)	ENSP00000483597.1:p.Ala16710Ser
NM_001256850.1:c.50128G>T (TTN)	NP_001243779.1:p.Ala16710Ser
NM_001267550.2:c.55051G>T (TTN) MANE Select	NP_001254479.2:p.Ala18351Ser
NM_003319.4:c.27856G>T (TTN)	NP_003310.4:p.Ala9286Ser
NM_133378.4:c.47347G>T (TTN)	NP_596869.4:p.Ala15783Ser
NM_133432.3:c.28231G>T (TTN)	NP_597676.3:p.Ala9411Ser
NM_133437.4:c.28432G>T (TTN)	NP_597681.4:p.Ala9478Ser
NR_038271.1:n.682+4670C>A (TTN-AS1)
NR_038272.1:n.3917+1684C>A (TTN-AS1)
XM_011511729.1:c.54148G>T (TTN)	XP_011510031.1:p.Ala18050Ser
XM_011511730.1:c.28042G>T (TTN)	XP_011510032.1:p.Ala9348Ser
XM_011511731.1:c.27901G>T (TTN)	XP_011510033.1:p.Ala9301Ser
XM_017004819.1:c.53944G>T (TTN)	XP_016860308.1:p.Ala17982Ser
XM_017004820.1:c.49342G>T (TTN)	XP_016860309.1:p.Ala16448Ser
XM_017004821.1:c.49339G>T (TTN)	XP_016860310.1:p.Ala16447Ser
XM_017004822.1:c.46381G>T (TTN)	XP_016860311.1:p.Ala15461Ser
XM_017004823.1:c.27997G>T (TTN)	XP_016860312.1:p.Ala9333Ser
XM_024453094.1:c.49492G>T (TTN)	XP_024308862.1:p.Ala16498Ser
XM_024453095.1:c.49489G>T (TTN)	XP_024308863.1:p.Ala16497Ser
XM_024453096.1:c.48922G>T (TTN)	XP_024308864.1:p.Ala16308Ser
XM_024453097.1:c.46264G>T (TTN)	XP_024308865.1:p.Ala15422Ser
XM_024453098.1:c.46183G>T (TTN)	XP_024308866.1:p.Ala15395Ser
XM_024453099.1:c.27946G>T (TTN)	XP_024308867.1:p.Ala9316Ser
XM_024453100.1:c.17800G>T (TTN)	XP_024308868.1:p.Ala5934Ser